Conditions / Nervous system
arthrogryposis multiplex congenita-3
info · Nervous system
An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or
An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25.
Signs and symptoms
- Strabismus
- Hypermetropia
- Hypotonia
- Flexion contracture of finger
- Proximal muscle weakness
- Hyporeflexia
- Centrally nucleated skeletal muscle fibers
- Talipes equinovarus
- Delayed ability to walk
- Delayed gross motor development